Hereditary Haemochromatosis — RACP Adult Medicine MCQ

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ModerateGastroenterology & HepatologyHereditary HaemochromatosisRACP Adult Medicine

A 55-year-old man presents with fatigue, weight loss, and bronze skin discolouration. His transferrin saturation is 85% and ferritin is 2500 µg/L. HFE gene testing confirms C282Y homozygosity. Liver biopsy shows grade 3 fibrosis. What is the recommended treatment?

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Correct answer: A — Regular phlebotomy aiming for ferritin <50 µg/L

Hereditary haemochromatosis (C282Y homozygosity) with elevated iron indices and tissue iron overload should be managed with regular phlebotomy (typically 500 mL weekly initially). The target ferritin is <50 µg/L (some guidelines suggest <100 µg/L) with transferrin saturation <50%. Chelation therapy is reserved for patients who cannot tolerate phlebotomy. Screening for complications (hepatic, cardiac, endocrine, joint) and first-degree relative testing should be performed.

Reference: eTG – 2025 – Gastrointestinal; EASL – 2010 – Haemochromatosis Guidelines